ClinVar for Gene (Select 256471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366459	NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)	MFSD8 (F133V +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 3336668	NM_001371596.2(MFSD8):c.193C>T (p.Gln65Ter)	MFSD8 (Q20* +1 more)	Single nucleotide variant (nonsense)	Macular dystrophy with central cone involvement +1 more	GLikely pathogenic
Select item 3294568	NM_001371596.2(MFSD8):c.826T>G (p.Phe276Val)	MFSD8 (F126V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294567	NM_001371596.2(MFSD8):c.94T>C (p.Tyr32His)	MFSD8 (Y32H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294566	NM_001371596.2(MFSD8):c.332T>C (p.Ile111Thr)	MFSD8 (I66T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246661	NC_000004.11:g.(?_128864934)_(128868356_?)del	MFSD8	Deletion	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 3246660	NC_000004.11:g.(?_128841785)_(128871022_?)del	MFSD8	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 3246659	NC_000004.11:g.(?_128870939)_(128886288_?)del	MFSD8	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 3246658	NC_000004.11:g.(?_128841785)_(128886288_?)del	MFSD8	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 3125833	NM_001371596.2(MFSD8):c.869T>C (p.Ile290Thr)	MFSD8 (I140T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125832	NM_001371596.2(MFSD8):c.1357T>C (p.Tyr453His)	MFSD8 (Y359H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068353	NM_001371596.2(MFSD8):c.863+5G>A	MFSD8	Single nucleotide variant (intron variant)	Macular dystrophy with central cone involvement	GUncertain significance
Select item 3068056	NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)	MFSD8 (A155T +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 3065104	NM_001371596.2(MFSD8):c.1348C>T (p.Gln450Ter)	MFSD8 (Q300* +8 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3024088	NM_001371596.2(MFSD8):c.249_250dup (p.Ser84fs)	MFSD8 (S84fs +1 more)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 3017999	NM_001371596.2(MFSD8):c.863+15A>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 3015614	NM_001371596.2(MFSD8):c.639A>C (p.Pro213=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 3010257	NM_001371596.2(MFSD8):c.864-10T>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 3010160	NM_001371596.2(MFSD8):c.597A>G (p.Thr199=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 3000266	NM_001371596.2(MFSD8):c.63-15C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2991384	NM_001371596.2(MFSD8):c.62+18G>A	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2990010	NM_001371596.2(MFSD8):c.439+15A>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2983902	NM_001371596.2(MFSD8):c.864-19A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2981921	NM_001371596.2(MFSD8):c.420A>G (p.Gly140=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2981913	NM_001371596.2(MFSD8):c.1350+17G>A	MFSD8	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2980698	NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2964408	NM_001371596.2(MFSD8):c.1086C>G (p.Pro362=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2955690	NM_001371596.2(MFSD8):c.199-12C>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2919692	NM_001371596.2(MFSD8):c.439+17A>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2918079	NM_001371596.2(MFSD8):c.699-17G>A	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2917474	NM_001371596.2(MFSD8):c.553+16A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2917155	NM_001371596.2(MFSD8):c.864-17_864-15del	MFSD8	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2915057	NM_001371596.2(MFSD8):c.439+17_439+18del	MFSD8	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2912700	NM_001371596.2(MFSD8):c.199-12C>A	MFSD8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2912664	NM_001371596.2(MFSD8):c.198+14A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2911437	NM_001371596.2(MFSD8):c.439+15A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2910067	NM_001371596.2(MFSD8):c.1266A>G (p.Ser422=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2907016	NM_001371596.2(MFSD8):c.154+17C>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2903949	NM_001371596.2(MFSD8):c.864-15T>A	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2902717	NM_001371596.2(MFSD8):c.1350+19C>T	MFSD8	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2902323	NM_001371596.2(MFSD8):c.1217C>G (p.Ala406Gly)	MFSD8 (A361G +8 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2890874	NM_001371596.2(MFSD8):c.42A>G (p.Leu14=)	MFSD8	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2883174	NM_001371596.2(MFSD8):c.864-2A>G	MFSD8	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GLikely pathogenic
Select item 2875745	NM_001371596.2(MFSD8):c.754+11C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2874272	NM_001371596.2(MFSD8):c.63-8A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2874068	NM_001371596.2(MFSD8):c.863+14C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2869672	NM_001371596.2(MFSD8):c.1119_1122del (p.Ile374fs)	MFSD8 (I224fs +8 more)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 2867941	NM_001371596.2(MFSD8):c.755-18T>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2864070	NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2859384	NM_001371596.2(MFSD8):c.573A>T (p.Thr191=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2857723	NM_001371596.2(MFSD8):c.1188A>G (p.Glu396=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2857549	NM_001371596.2(MFSD8):c.1235del (p.Pro412fs)	MFSD8 (P318fs +8 more)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 2857326	NM_001371596.2(MFSD8):c.1002T>C (p.Ile334=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2855177	NM_001371596.2(MFSD8):c.440-7T>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2855176	NM_001371596.2(MFSD8):c.1013C>A (p.Ala338Asp)	MFSD8 (A244D +8 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2851479	NM_001371596.2(MFSD8):c.440-14G>A	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2850722	NM_001371596.2(MFSD8):c.62+18G>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2850694	NM_001371596.2(MFSD8):c.1140G>T (p.Gly380=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2850414	NM_001371596.2(MFSD8):c.154+11_154+13del	MFSD8	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2848904	NM_001371596.2(MFSD8):c.378C>T (p.Ile126=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2838819	NM_001371596.2(MFSD8):c.553+18_553+19del	MFSD8	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2838228	NM_001371596.2(MFSD8):c.133dup (p.Thr45fs)	MFSD8 (T45fs)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 2837814	NM_001371596.2(MFSD8):c.1351-9C>G	MFSD8	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2836237	NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter)	MFSD8 (W206* +8 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 2834671	NM_001371596.2(MFSD8):c.213T>C (p.Ala71=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2832515	NM_001371596.2(MFSD8):c.18C>T (p.Asn6=)	MFSD8	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2832196	NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys)	MFSD8 (M1K)	Single nucleotide variant (missense variant +3 more)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 2831202	NM_001371596.2(MFSD8):c.162T>C (p.Ser54=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2830218	NM_001371596.2(MFSD8):c.155-11C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2830122	NM_001371596.2(MFSD8):c.246A>C (p.Ser82=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2827836	NM_001371596.2(MFSD8):c.998+18G>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2826300	NM_001371596.2(MFSD8):c.1323T>C (p.Tyr441=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2825697	NM_001371596.2(MFSD8):c.154+13A>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2824615	NM_001371596.2(MFSD8):c.999-10T>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2824573	NM_001371596.2(MFSD8):c.154+17C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2823970	NM_001371596.2(MFSD8):c.554-7T>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2816851	NM_001371596.2(MFSD8):c.439+18T>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2813791	NM_001371596.2(MFSD8):c.372C>T (p.Leu124=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2811958	NM_001371596.2(MFSD8):c.699-2A>G	MFSD8	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 2811641	NM_001371596.2(MFSD8):c.693A>T (p.Ile231=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2805188	NM_001371596.2(MFSD8):c.579T>C (p.Leu193=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2804503	NM_001371596.2(MFSD8):c.1416C>A (p.Ile472=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2804396	NM_001371596.2(MFSD8):c.45C>A (p.Gly15=)	MFSD8	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2801728	NM_001371596.2(MFSD8):c.1273C>T (p.Leu425=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2793859	NM_001371596.2(MFSD8):c.402C>T (p.Tyr134=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2793840	NM_001371596.2(MFSD8):c.654C>A (p.Ala218=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2793294	NM_001371596.2(MFSD8):c.198+18T>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2787542	NM_001371596.2(MFSD8):c.1103-18A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2781404	NM_001371596.2(MFSD8):c.447A>G (p.Val149=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2778036	NM_001371596.2(MFSD8):c.199-16G>C	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2772710	NM_001371596.2(MFSD8):c.1280G>T (p.Gly427Val)	MFSD8 (G360V +8 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2768357	NM_001371596.2(MFSD8):c.1102+12C>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2767408	NM_001371596.2(MFSD8):c.998+17T>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2766594	NM_001371596.2(MFSD8):c.1344A>G (p.Lys448=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2765114	NM_001371596.2(MFSD8):c.219A>C (p.Thr73=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2763748	NM_001371596.2(MFSD8):c.1103-9T>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2761531	NM_001371596.2(MFSD8):c.780C>G (p.Pro260=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign

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